SGCE Gene
protein-coding GIFtS : 59
GCID: GC07 M094214
sarcoglycan, epsilon (Previous symbol: DYT11 )
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Aliasesfor SGCE gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Sarcoglycan, Epsilon 1 2 Epsilon-SG3 DYT111 2 5 Epsilon-Sarcoglycan1 ESG2 3 Epsilon-SG3 Dystonia 11, Myoclonic2
Export aliases for SGCE gene to outside databases Previous GC identifers: GC07M092749 GC07M093812 GC07M093826 GC07M093859 GC07M094052 GC07M088821
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Summariesfor SGCE gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for SGCE : This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Oct 2010) UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 Function : Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a linkbetween the F-actin cytoskeleton and the extracellular matrix Gene Wiki entry for SGCE
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Genomic Viewsfor SGCE gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SGCE gene promoter: C/EBPbeta Other transcription factors Search SABiosciences Chromatin IP Primers for SGCE Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat SGCE
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 7q21.3 Ensembl cytogenetic band: 7q21.3 HGNC cytogenetic band: 7q21.3 SGCE Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 7 GeneLoc Exon Structure
GeneLoc location for GC07M094214: view genomic region
(about GC identifiers )
Start:
94,214,536 bp from pter
End:
94,285,521 bp from pter
Size:
70,986 bases
Orientation:
minus strand
1 alternative location : Chr 7-,CRA_TCAG 93,543,689-93,614,670
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Proteinsfor SGCE gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 (See
protein sequence )Recommended Name: Epsilon-sarcoglycan Size : 437 amino acids; 49851 Da
Subcellular location : Cell membrane, sarcolemma; Single-pass membrane protein (Potential). Cytoplasm, cytoskeleton (Bysimilarity)
Sequence caution : Sequence=AAC04368.1; Type=Erroneous initiation;
Secondary accessions : B2R8N2 D6W5Q8 E9PF60 Q6L8P0 Q75MH8 Q8NFG8 Q8WW28Alternative splicing : 2 isoforms : O43556-1 O43556-3 (Brain-specific)Explore the universe of human proteins at neXtProt for SGCE: NX_O43556 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_O43556 SGCE Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (3 alternative transcripts):
NP_001092870.1 NP_001092871.1 NP_003910.1 ENSEMBL proteins: ENSP00000431080 ENSP00000265735 ENSP00000398930 ENSP00000394061 ENSP00000388734 ENSP00000397536 ENSP00000405313 ENSP00000398344 ENSP00000391892 Human Recombinant Protein Products: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
SGCE for ontologies About GeneDecksing SGCE Antibody Products: Assay Products for SGCE:
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Protein
Domains / Familiesfor SGCE gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
SGCE for domains About GeneDecksing 2 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry O43556 ProtoNet protein and cluster: O43556
2 Blocks protein families : IPB006644 Dystroglycan-type cadherin-like domain IPB008908 Sarcoglycan alphaepsilon UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 Similarity : Belongs to the sarcoglycan alpha/epsilon family
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Functionfor SGCE gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 Function : Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a linkbetween the F-actin cytoskeleton and the extracellular matrix
Genatlas biochemistry entry for SGCE : sarcoglycan epsilon,dystrophin associated protein,broadly expressed in muscle and non muscle cells of embryo and adult,associating with other sarcoglycans,stabilizing the link between dystroglycan and dystrophin/utrophin Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SGCE (see all 9 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SGCE (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): SGCE (NM_003919 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SGCE Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SGCE
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCE
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005509 calcium ion binding
IEA --
SGCE for ontologies About GeneDecksing Animal Models: Mouse knock-out Sgce tm1Ygl for SGCE 6 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Sgce) :
SGCE for phenotypes About GeneDecksing
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Pathways & Interactionsfor SGCE gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SGCE STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/34 Interacting proteins for SGCE (O43556 2 , 3 ENSP00000398930 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 34 )About this table Gene Ontology (GO): 2 biological process terms (GO ID links to tree view) : About this table
SGCE for ontologies About GeneDecksing
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Drugs & Compoundsfor SGCE gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
SGCE for compounds About GeneDecksing Browse Tocris compounds for SGCE 1 Novoseek chemical compound relationship for SGCE gene About this table
Search CenterWatch for drugs/clinical trials and news about SGCE
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Transcriptsfor SGCE gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for SGCE gene (3 alternative transcripts): NM_001099400.1 NM_001099401.1 NM_003919.2 Unigene Cluster for SGCE:
Sarcoglycan, epsilon Hs.371199 [show with all ESTs ] Unigene Representative Sequence: AK295021 11 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000522045 ENST00000265735 (uc003unm.2 uc003unl.2 uc003unn.2 uc011kic.1 )ENST00000445866 ENST00000437425 ENST00000447873 ENST00000428696 ENST00000472326 ENST00000415788 (uc011kid.1 ) ENST00000462731 ENST00000450385 ENST00000425444 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SGCE (see all 9 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SGCE (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): SGCE (NM_003919 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SGCE Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SGCE
Additional cDNA sequence: AB117974.1 AF031920.1 AF036364.1 AF516515.1 AJ000534.1 AK295021.1 AK298220.1 AK313438.1 AY359042.1 BC021709.2
13 DOTS entries : DT.100786625 DT.452904
DT.91746569 DT.100786623 DT.100786620 DT.40121592 DT.100762448 DT.95173187 DT.91681096 DT.95173186 DT.99950015 DT.40121591 DT.92034733 24/157 AceView cDNA sequences (see all 157 ):
AI692544 AA424550 BQ879635 BQ717921 AA424641 AA232758 CR596310 BG055475 BX393441 AB117974 AI344582 BM083297 BM981628 Z45071 BM128390 CR606329 AI374598 BE220963 AJ000534 AL547670 AI648380 AL702273 BQ932247 CD722975 GeneLoc Exon Structure 5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SGCE (see all 9 ) About this scheme ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c SP1 :           -   -   -                     -     -       -         SP2 :           -   -   -                     -   -   -               SP3 :               -                                       SP4 :                                   -   -   -       -         SP5 :           -   -   -   -                                    
ECgene alternative splicing isoforms for SGCE
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Expression for SGCE gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section SGCE expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TTGGCAGTAT
About this image SGCE expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See SGCE Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SGCE SOURCE GeneReport for Unigene cluster: Hs.371199 UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556 Tissue specificity : Ubiquitous SABiosciences Expression via Pathway-Focused PCR Array including SGCE : Extracellular Matrix & Adhesion Molecules in human mouse rat
Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SGCEBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat SGCE QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SGCE QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SGCE In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SGCE
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Orthologsfor SGCE gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for SGCE gene from 4/14 species (see all 14 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
SGCE1
sarcoglycan, epsilon
84.56(n) 94.68(a)
 
420567 XM_003640683.1 XP_003640731.1
lizard (Anolis carolinensis)
Reptilia
SGCE6
--
82(a)
1 ↔ 1
6(22279147-22298691)
zebrafish (Danio rerio)
Actinopterygii
Dr.27202
Transcribed sequence with weak similarity to protein more
74.21(n)
 
57050708
fruit fly (Drosophila melanogaster)
Insecta
Scgalpha6
Sarcoglycan alpha
19(a)
1 → many
2L(8303429-8305376)
ENSEMBL Gene Tree for SGCE (if available)TreeFam Gene Tree for SGCE (if available)
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Paralogsfor SGCE gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SGCE gene SGCA 2 1 SIMAP similar gene for SGCE using alignment to 7 protein entries: SGCE_HUMAN (see all proteins ):SGCA
SGCE for paralogs About GeneDecksing 1 Pseudogenes.org Pseudogene for SGCE PGOHUM00000240376
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Genomic Variantsfor SGCE gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 7 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for SGCE (94214536 - 94285521 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for SGCE 1 CNV : 5243 Human Gene Mutation Database (HGMD) : SGCE Locus Specific Mutation Databases (LSDB): SGCE SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SGCE
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Disorders
/ Diseasesfor SGCE gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
SGCE for disorders About GeneDecksing OMIM gene information: 604149 OMIM disorders : 159900 UniProtKB/Swiss-Prot: SGCE_HUMAN, O43556
Defects in SGCE are a cause of dystonia type 11 (DYT11) [MIM:159900]; also known as myoclonic dystonia or alcohol-responsive dystonia. DYT11 is a myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable 20/33 diseases for SGCE (see all 33 ): About MalaCards dystonia-11, myoclonic myoclonus-dystonia myoclonus gilles de la tourette syndrome obsessive-compulsive disorder limb-girdle muscular dystrophy silver-russell syndrome spinocerebellar ataxia type 14 complex regional pain syndrome benign hereditary chorea focal dystonia spinocerebellar ataxia tourette syndrome muscular dystrophy chorea familial dystonia asperger syndrome paine syndrome alcohol dependence chronic lymphocytic leukemia 4 diseases from the University of Copenhagen DISEASES database for SGCE :Movement disease Familial dystonia Muscular dystrophy Silver-Russell syndrome 5 Novoseek disease relationships for SGCE gene About this table
GeneTests: SGCE Myoclonus-Dystonia Genetic Association Database (GAD): SGCE Human Genome Epidemiology (HuGE) Navigator: SGCE (8 documents) Export disorders for SGCE gene to outside databases
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Publicationsfor SGCE gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for SGCE gene, integrated from 9 sources (see all 106 ) (see top 10 ): (articles sorted by number of sources associating them with SGCE) Utopia : connect your pdf to the dynamic world of online information
Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene. (PubMed id 9475163) 1 , 2 , 3 McNally E.M.... Kunkel L.M. (1998) epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D. (PubMed id 9405466) 1 , 2 , 3 Ettinger A.J....Sanes J.R. (1997) Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. (PubMed id 15390016) 1 , 4, 9 Grundmann K....Riess O. (2004) Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. (PubMed id 18362280) 1 , 2 , 9 Roze E....Vidailhet M. (2008) Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. (PubMed id 15368614) 1 , 4, 9 de Carvalho Aguiar P....Ozelius L.J. (2004) Myoclonus-Dystonia: clinical and genetic evaluation of a large cohort. (PubMed id 19066193) 1 , 2 , 9 Ritz K....Tijssen M.A. (2008) The epsilon-sarcoglycan gene in myoclonic syndromes. (PubMed id 15728306) 1 , 4, 9 Valente E.M....Bhatia K.P. (2005) Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. (PubMed id 12402271) 1 , 2 , 9 Klein C....Ozelius L.J. (2002) Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. (PubMed id 11528394) 1 , 2 , 9 Zimprich A....Gasser T. (2001) Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. (PubMed id 18175340) 1 , 2 , 9 Raymond D....Bressman S. (2008) Clinical and molecular genetic evaluation of patients with primary dystonia. (PubMed id 15679701) 1 , 4 Shang H....Burgunder J.M. (2005) Identification and characterization of epsilon-sarcoglycans in the central nervous system. (PubMed id 15193417) 1 , 2 Nishiyama A.... Imamura M. (2004) The DNA sequence of human chromosome 7. (PubMed id 12853948) 1 , 2 Hillier L.W.... Wilson R.K. (2003) The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309) 1 , 2 Clark H.F.... Gray A.M. (2003) Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. (PubMed id 16227522) 2 , 9 Tezenas du Montcel S....Brice A. (2006) Myoclonus-dystonia: significance of large SGCE deletions. (PubMed id 18205193) 1 , 9 Grunewald A....Klein C. (2008) Myoclonus-dystonia due to maternal uniparental disomy. (PubMed id 18852357) 1 , 9 Guettard E....Roze E. (2008) Large deletions account for an increasing number of mutations in SGCE. (PubMed id 18098280) 1 , 9 Han F....Bulman D.E. (2008) Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. (PubMed id 17702041) 1 , 9 Orth M....Munchau A. (2007) Genetic heterogeneity in ten families with myoclonus-dystonia. (PubMed id 15258227) 2 , 9 Schule B....Kostic V. (2004) Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. (PubMed id 18651096) 1 , 9 Bonnet C....Jonveaux P. (2008) SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. (PubMed id 17200151) 1 , 9 Esapa C.T....Blake D.J. (2007) Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. (PubMed id 17702043) 1 , 9 Asmus F....Chinnery P.F. (2007) The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. (PubMed id 12634861) 1 , 9 Grabowski M....Strom T.M. (2003) Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. (PubMed id 12444570) 1 , 9 Muller B....Klein C. (2002) MMP-7 and SGCE as distinctive molecular factors in sp oradic colorectal cancers from the mutator phenotype pathway. (PubMed id 20372795) 1 , 9 Ortega P....Benito M. (2010) Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene. (PubMed id 19147379) 1 , 9 ThA1mmler S....Perelman S. (2009) A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome. (PubMed id 18581468) 1 , 9 Chen X.P....Shang H.F. (2008) Temporal regulation of the expression of syncytin (HERV-W), maternally imprinted PEG10, and SGCE in human placenta. (PubMed id 12620933) 1 , 9 Smallwood A.... Banerjee S. (2003) Clinical and neurophysiological improvement of SGCE m yoclonus-dystonia with GPi deep brain stimulation. (PubMed id 19896264) 1 , 9 Kurtis M.M....Saunders-Pullman R. (2010) Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. (PubMed id 12325078) 1 , 9 Asmus F....Gasser T. (2002) No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. (PubMed id 18355305) 1 , 9 Hjermind L.E....Nielsen J.E. (2008) Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia. (PubMed id 17394244) 1 , 9 Borges V....Ozelius L.J. (2007) Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. (PubMed id 17898012) 1 , 9 Asmus F....Gasser T. (2007) Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. (PubMed id 16534121) 1 , 9 Gerrits M.C....Tijssen M.A. (2006) Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. (PubMed id 15079037) 2 , 9 Hedrich K....Klein C. (2004) Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. (PubMed id 14978685) 1 , 9 Kock N....Klein C. (2004) Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. (PubMed id 12707948) 1 , 9 Marechal L....Hannequin D. (2003) Hereditary myoclonus-dystonia associated with epilepsy. (PubMed id 12821748) 1 , 9 Foncke E.M....Tijssen M.A. (2003) A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype. (PubMed id 22026499) 1 Tedroff K....Norling A. (2012) Cognition and psychopathology in myoclonus-dystonia. (PubMed id 22626943) 1 van Tricht M.J....Tijssen M.A. (2012) Functional magnetic resonance imaging evidence of inc omplete maternal imprinting in myoclonus-dystonia. (PubMed id 21320983) 1 Beukers R.J....Tijssen M.A. (2011) Severity of dystonia is correlated with putaminal gray matter changes in myoclonus-dystonia. (PubMed id 21219543) 1 Beukers R.J....Tijssen M.A. (2011) Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma. (PubMed id 21767414) 1 Dong H....Jin W. (2011) Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983) 1 Kim W....Gygi S.P. (2011) Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to I/-sarcoglycan mutations: a pilot study. (PubMed id 21220679) 1 Azoulay-Zyss J....Grabli D. (2011) Psychiatric disorders, myoclonus dystonia, and the eps ilon-sarcoglycan gene: a systematic review. (PubMed id 21713999) 1 Peall K.J....Morris H.R. (2011) Familial 7q21.3 microdeletion involving epsilon-sarco glycan causing myoclonus dystonia, cognitive impairment, and psychosis. (PubMed id 21425342) 1 Dale R.C....Peters G.B. (2011) SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? (PubMed id 21157498) 1 Ritz K....Baas F. (2011) A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse epsilon- sarcoglycan in the late secretory pathway. (PubMed id 21796726) 2 Waite A.... Blake D.J. (2011) Impaired saccadic adaptation in DYT11 dystonia. (PubMed id 21386109) 1 Hubsch C....Roze E. (2011) Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048) 1 Danielsen J.M....Nielsen M.L. (2011) Large SGCE deletion contributes to Taiwanese myoclonu s-dystonia syndrome. (PubMed id 20800530) 1 Huang C.L....Wu-Chou Y.H. (2010) Confirmed rare copy number variants implicate novel g enes in schizophrenia. (PubMed id 20298200) 1 Tam G.W....Grant S.G. (2010) 'Jerky' dystonia in children: spectrum of p henotypes and genetic testing. (PubMed id 19117362) 1 Asmus F....King M.D. (2009) Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218) 2 Chen R.... Zou H. (2009) Screening for dystonia genes DYT1, 11 and 16 in patie nts with writer's cramp. (PubMed id 19441135) 1 Ritz K....Tijssen M.A. (2009) Screening of the epsilon sarcoglycan gene in Tourette syndrome and obsessive compulsive disorder. (PubMed id 18349702) 1 Katerberg H....Baas F. (2008) Ethanol increases fetal human neurosphere size and alters adhesion molecule gene expression. (PubMed id 18162078) 1 Vangipuram S.D....Lyman W.D. (2008) Expression of the dystrophin-glycoprotein complex is a marker for human airway smooth muscle phenotype maturation. (PubMed id 17993586) 1 Sharma P....Halayko A.J. (2008) Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp. (PubMed id 18702114) 1 Koukouni V....Quinn N.P. (2008) Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. (PubMed id 17296918) 1 Hess C.W....Saunders-Pullman R. (2007) Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene. (PubMed id 17230465) 1 Misbahuddin A....Warner T.T. (2007) Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease. (PubMed id 17394247) 1 Chung E.J....Kim I.S. (2007) Epsilon-sarcoglycan is not involved in sporadic Gilles de la Tourette syndrome. (PubMed id 15627203) 1 Asmus F....Gasser T. (2005) A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070) 1 Stelzl U.... Wanker E.E. (2005) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 2 Ota T.... Sugano S. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 2 Gerhard D.S....Malek J. (2004) Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes. (PubMed id 12060343) 1 Fanin M. and Angelini C. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002) Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. (PubMed id 10993904) 1 Barresi R....Campbell K.P. (2000) Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. (PubMed id 10554001) 1 Nygaard T.G....Bressman S.B. (1999) Myoclonus-Dystonia (PubMed id 20301587) 1 Raymond D. and Ozelius L. (1993) (PubMed id 17853490) 2 Cloning, developmental regulation and neural localization of rat epsilon-sarcoglycan. (PubMed id 14625080) 9 Xiao J. and LeDoux M.S. (2003) Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines. (PubMed id 10757814) 9 Piras G....Stewart C.L. (2000) Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain. (PubMed id 16099459) 9 Yokoi F....Li Y. (2005) Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family. (PubMed id 19506430) 9 Foncke E.M....Tijssen M. (2009) Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. (PubMed id 12900898) 9 DeBerardinis R.J....Emanuel B.S. (2003) Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. (PubMed id 18571946) 9 Gerrits M.C....Tijssen M.A. (2009) Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. (PubMed id 16240355) 9 Asmus F....Gasser T. (2005) Disorganized sensorimotor integration in mutation-pos itive myoclonus-dystonia: a functional magnetic resonance imaging study. (PubMed id 20385914) 9 Beukers R.J....Tijssen M.A. (2010) Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. (PubMed id 20425829) 9 Saugier-Veber P....Roze E. (2010) Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. (PubMed id 14502674) 9 Valente E.M....Warner T.T. (2003) Epigenetic inactivation of the placentally imprinted tumor suppressor gene TFPI2 in prostate carcinoma. (PubMed id 20335518) 9 Ribarska T....Schulz W.A. (2010) Cortical excitability in DYT-11 positive myoclonus dystonia. (PubMed id 18265016) 9 ....Trocello J.M. (2008) Inherited myoclonus-dystonia and epilepsy: further evidence of an association? (PubMed id 15389977) 9 O'Riordan S....Lynch T. (2004) Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. (PubMed id 12874409) 9 Han F....Grimes D.A. (2003) Phenotypic features of myoclonus-dystonia in three kindreds. (PubMed id 12391346) 9 Doheny D.O....Silverman J.M. (2002) Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. (PubMed id 19913450) 9 Foncke E.M....Tijssen M.A. (2010) Systematic mutation analysis of seven dystonia genes in complex regional pain syndrome with fixed dystonia. (PubMed id 20066431) 9 Gosso M.F....van den Maagdenberg A.M. (2010) Enhanced human bone marrow stromal cell affinity for modified poly(L-lactide) surfaces by the upregulation of adhesion molecular gen es. (PubMed id 19796804) 9 Mao X....Xiao Y. (2009) Gene expression profile analysis of human hepatocellular carcinoma using SAGE and LongSAGE. (PubMed id 19171046) 9 Dong H....Jin W. (2009) Clinical and genetic characterization of a large Dutch family with primary focal dystonia. (PubMed id 18823044) 9 Contarino M.F....Tijssen M.A. (2008) Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing. (PubMed id 18480470) 9 Monk D....Moore G.E. (2008) A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. (PubMed id 18759336) 9 Marelli C....Franceschetti S. (2008) SERT Ileu425Val in autism, Asperger syndrome and obsessive-compulsive disorder. (PubMed id 18197083) 9 Wendland J.R....Murphy D.L. (2008) Overexpression of the paternally expressed gene 10 (PEG10) from the imprinted locus on chromosome 7q21 in high-risk B-cell chronic lymphocytic leukemia. (PubMed id 17621626) 9 Kainz B.... Jaeger U. (2007) Expression and function of utrophin associated protein complex in stretched endothelial cells: dissociation and activation of eNOS. (PubMed id 17127434) 9 Ramirez-Sanchez I....Coral-Vazquez R.M. (2007) [The study and treatment of dystonias in childhood] (PubMed id 17061184) 9 Pascual-Pascual S.I. (2006) Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice. (PubMed id 16815860) 9 Yokoi F....Li Y. (2006) A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. (PubMed id 16722965) 9 Albanese A....Valls-Sole J. (2006) Deep brain stimulation in myoclonus-dystonia syndrome. (PubMed id 15197720) 9 Cif L....Coubes P. (2004) Improving the comparative map of porcine chromosome 9 with respect to human chromosomes 1, 7 and 11. (PubMed id 14970691) 9 Middleton R....Moran C. (2003) Clinical findings of a myoclonus-dystonia family with two distinct mutations. (PubMed id 12391355) 9 Doheny D....Silverman J.M. (2002)
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PharmGKB entry for SGCE Pharmacogenomics, SNPs, Pathways LEIDEN Muscular Dystrophy page for SGCE Scientfic Information about Duchenne and Duchenne-like muscular dystrophies . GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCE
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About This Section Patent Information for SGCE gene: Search GeneIP for patents involving SGCE GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SGCE gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SGCE QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SGCE QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat SGCE QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat SGCE QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SGCE QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SGCE
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